Variant report

Variant	rs647987
Chromosome Location	chr11:85339380-85339381
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr11:85339191-85339969	ECC-1	luminal epithelium:	n/a	n/a
2	STAT3	chr11:85339311-85340556	MCF10A-Er-Src	breast:	n/a	n/a
3	USF1	chr11:85339069-85340220	HCT-116	colon:	n/a	chr11:85339632-85339643
4	EP300	chr11:85339318-85339966	K562	blood:	n/a	chr11:85339333-85339341
5	JUND	chr11:85338779-85339903	K562	blood:	n/a	chr11:85339431-85339440 chr11:85339185-85339199
6	USF1	chr11:85339327-85340407	SK-N-SH	brain:	n/a	chr11:85339632-85339643
7	MYC	chr11:85339194-85340459	Hela-S3	cervix:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
8	TCF12	chr11:85339230-85339511	GM12878	blood:	n/a	chr11:85339298-85339308
9	POLR2A	chr11:85338987-85339926	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr11:85338562-85339982	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:85339202-85340780	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:85338780-85339908	NB4	blood:	n/a	n/a
13	USF1	chr11:85339320-85339926	A549	lung:	n/a	chr11:85339632-85339643
14	POLR2A	chr11:85339054-85339999	GM10847	blood:	n/a	n/a
15	POLR2A	chr11:85338959-85340109	GM18505	blood:	n/a	n/a
16	MTA3	chr11:85338807-85340213	GM12878	blood:	n/a	n/a
17	CEBPD	chr11:85339173-85339761	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:85338761-85339973	MCF-7	breast:	n/a	n/a
19	TBP	chr11:85339245-85339865	HepG2	liver:	n/a	n/a
20	REST	chr11:85338169-85340260	H1-neurons	neurons:	n/a	chr11:85339311-85339324
21	EP300	chr11:85339210-85339874	GM12878	blood:	n/a	chr11:85339333-85339341
22	MXI1	chr11:85338905-85340516	Hela-S3	cervix:	n/a	n/a
23	TEAD4	chr11:85339345-85339911	ECC-1	luminal epithelium:	n/a	n/a
24	TAF1	chr11:85339161-85339978	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr11:85339149-85339935	ECC-1	luminal epithelium:	n/a	n/a
26	TAF7	chr11:85339046-85339883	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr11:85337986-85341424	SK-N-SH	brain:	n/a	n/a
28	MAX	chr11:85338342-85340541	Hela-S3	cervix:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
29	MAX	chr11:85339121-85340343	SK-N-SH	brain:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
30	NFYB	chr11:85339096-85339698	K562	blood:	n/a	n/a
31	STAT3	chr11:85339366-85340451	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:85338928-85340145	K562	blood:	n/a	n/a
33	POLR2A	chr11:85339105-85339849	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr11:85339146-85339868	H1-hESC	embryonic stem cell:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
35	GATA2	chr11:85338957-85340263	SH-SY5Y	brain:	n/a	n/a
36	POU2F2	chr11:85339356-85339887	GM12891	blood:	n/a	chr11:85339423-85339435
37	TBP	chr11:85339044-85340581	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:85338928-85339823	HCT-116	colon:	n/a	n/a
39	EP300	chr11:85339240-85339794	SK-N-SH_RA	brain:	n/a	chr11:85339333-85339341
40	POLR2A	chr11:85338928-85340141	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:85338859-85340064	PFSK-1	brain:	n/a	n/a
42	MAX	chr11:85338464-85340578	NB4	blood:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
43	USF1	chr11:85339377-85339871	A549	lung:	n/a	chr11:85339632-85339643
44	TAF1	chr11:85339182-85339751	PFSK-1	brain:	n/a	n/a
45	RCOR1	chr11:85339134-85340097	HepG2	liver:	n/a	n/a
46	STAT3	chr11:85339229-85340259	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr11:85338872-85340519	A549	lung:	n/a	chr11:85339634-85339643 chr11:85339540-85339550
48	POLR2A	chr11:85338994-85339944	A549	lung:	n/a	n/a
49	POLR2A	chr11:85339069-85339963	HL-60	blood:	n/a	n/a
50	PAX5	chr11:85339358-85339713	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:85339087..85339843-chr15:80188791..80189620,2	NB4	blood:
2	chr11:85338344..85340985-chr11:85434050..85436369,2	K562	blood:
3	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
4	chr11:85338390..85343522-chr11:85356567..85360273,9	MCF-7	breast:
5	chr1:154909229..154909730-chr11:85338863..85339388,2	NB4	blood:
6	chr11:85337127..85343160-chr11:85357064..85364111,20	MCF-7	breast:
7	chr11:85339163..85339837-chr16:57496208..57497121,2	HCT-116	colon:
8	chr11:85339177..85340010-chr22:41347322..41348124,2	HCT-116	colon:
9	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:
10	chr11:85338441..85340727-chr11:85396726..85399566,2	MCF-7	breast:

Variant related genes	Relation type
TMEM126B	TF binding region
DLG2	TF binding region
ENSG00000136371	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000171202	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000100387	Chromatin interaction
ENSG00000102978	Chromatin interaction
ENSG00000179071	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs34359423	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs471226	0.90[CEU][hapmap]
rs472784	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs536665	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs567007	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs598346	0.85[CEU][hapmap]
rs616309	0.83[CEU][hapmap]
rs645798	0.82[CEU][hapmap]
rs662199	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85336000-85341000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:85336200-85340600	Active TSS	Ovary	ovary
3	chr11:85336200-85341400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:85336400-85340400	Active TSS	Aorta	Aorta
5	chr11:85337000-85340200	Active TSS	Stomach Smooth Muscle	stomach
6	chr11:85337200-85340800	Active TSS	Right Ventricle	heart
7	chr11:85337200-85341000	Active TSS	NHLF	lung
8	chr11:85337400-85341000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:85337600-85339600	Active TSS	Brain Germinal Matrix	brain
10	chr11:85337600-85340400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:85337600-85340400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:85337600-85340400	Active TSS	Fetal Heart	heart
13	chr11:85337600-85340400	Active TSS	Fetal Kidney	kidney
14	chr11:85337600-85340400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:85337600-85340400	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:85337600-85340600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:85337600-85340800	Active TSS	Colonic Mucosa	Colon
18	chr11:85337600-85341000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:85337800-85340000	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:85337800-85340000	Active TSS	Fetal Lung	lung
21	chr11:85337800-85340200	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr11:85337800-85340400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:85337800-85340400	Active TSS	Brain Angular Gyrus	brain
24	chr11:85337800-85340400	Active TSS	Colon Smooth Muscle	Colon
25	chr11:85337800-85340400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:85337800-85340600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr11:85337800-85340600	Active TSS	Fetal Stomach	stomach
28	chr11:85337800-85340600	Active TSS	Left Ventricle	heart
29	chr11:85337800-85340600	Active TSS	Psoas Muscle	Psoas
30	chr11:85337800-85340600	Active TSS	NHDF-Ad	bronchial
31	chr11:85337800-85340800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:85337800-85341000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:85337800-85341000	Active TSS	H1 Cell Line	embryonic stem cell
34	chr11:85337800-85341000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:85337800-85341200	Active TSS	Rectal Smooth Muscle	rectum
36	chr11:85338000-85340000	Active TSS	Osteobl	bone
37	chr11:85338000-85340200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:85338000-85340400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:85338000-85340400	Active TSS	HSMMtube	muscle
40	chr11:85338000-85340600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:85338000-85340600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:85338000-85340600	Active TSS	Brain Substantia Nigra	brain
43	chr11:85338000-85340600	Active TSS	Fetal Intestine Large	intestine
44	chr11:85338000-85340600	Active TSS	Fetal Muscle Trunk	muscle
45	chr11:85338000-85340800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:85338000-85341000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:85338000-85341200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:85338200-85339400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr11:85338200-85339400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr11:85338200-85339600	Active TSS	Fetal Brain Male	brain

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